HL7 Czech DIGOVO Implementation Guide
0.0.1 - ci-build Czechia flag

HL7 Czech DIGOVO Implementation Guide, published by HL7 Czech Republic. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7-cz/DIGOVO/ and changes regularly. See the Directory of published versions

: HGVS kódování genetických variant (DIGOVO) - JSON Representation

Active as of 2025-11-08

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{
  "resourceType" : "ValueSet",
  "id" : "vs-hgvs-code-cz",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet vs-hgvs-code-cz</b></p><a name=\"vs-hgvs-code-cz\"> </a><a name=\"hcvs-hgvs-code-cz\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include all codes defined in <a href=\"http://terminology.hl7.org/6.5.0/CodeSystem-v3-hgvs.html\"><code>http://varnomen.hgvs.org</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.ncbi.nlm.nih.gov/clinvar</code><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.omim.org</code><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li></ul></div>"
  },
  "url" : "https://hl7.cz/fhir/DIGOVO/ValueSet/vs-hgvs-code-cz",
  "version" : "0.0.1",
  "name" : "VsHgvsCodeCz",
  "title" : "HGVS kódování genetických variant (DIGOVO)",
  "status" : "active",
  "experimental" : false,
  "date" : "2025-11-08T23:36:31+00:00",
  "publisher" : "HL7 Czech Republic",
  "contact" : [
    {
      "name" : "HL7 Czech Republic",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.hl7.cz/"
        }
      ]
    }
  ],
  "description" : "Soubor kódů pro popis genetických variant dle standardu HGVS (Human Genome Variation Society).\nPoužívá se v rámci profilu CZ_Observation_Genotype jako hodnota (`valueCodeableConcept`).\nHodnoty odpovídají záznamům genetických variant, např. c.76A>T, p.Glu6Val.\nZdrojem dat jsou HGVS zápisy, OMIM, ClinVar nebo interní registr variant.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "CZ",
          "display" : "Czechia"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "http://varnomen.hgvs.org"
      },
      {
        "system" : "https://www.ncbi.nlm.nih.gov/clinvar"
      },
      {
        "system" : "https://www.omim.org"
      }
    ]
  }
}